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The shiitake mushroom has gained popularity in the last decade, ranking second in the world for mushrooms consumed, providing consumers with a wide variety of nutritional and healthy benefits. It is often not clear the origin of these mushrooms, so it becomes of great importance to the consumers. In this research, different machine learning algorithms were developed to determine the geographical origin of shiitake mushrooms (Lentinula edodes) consumed in Korea, based on experimental data reported in the literature (δ13C, δ15N, δ18O, δ34S, and origin). Regarding the origin of shiitake in three categories (Korean, Chinese, and mushrooms from Chinese inoculated sawdust blocks), the random forest model presents the highest accuracy value (0.940) and the highest kappa value (0.908) for the validation phase. To determine the origin of shiitake mushrooms in two categories (Korean and Chinese, including mushrooms from Chinese inoculated sawdust blocks in the latter ones), the support vector machine model is chosen as the best model due to the high accuracy (0.988) and kappa (0.975) values for the validation phase. Finally, to determine the origin in two categories (Korean and Chinese, but this time including the mushrooms from Chinese inoculated sawdust blocks in the Korean ones), the best model is the random forest due to its higher accuracy value (0.952) in the validation phase (kappa value of 0.869). The accuracy values in the testing phase for the best selected models are acceptable (between 0.839 and 0.964); therefore, the predictive capacity of the models could be acceptable for their use in real applications. This allows us to affirm that machine learning algorithms would be suitable modeling instruments to determine the geographical origin of shiitake.
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INTRODUCTION: Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially with the increasing prominence of genetic testing as a primary diagnostic method. As the list of genes associated with LD continues to expand due to the use of more comprehensive tests such as exome and genome sequencing, it is imperative to understand the clinical validity of the genes, as well as identify appropriate genes for inclusion in multi-gene testing and sequencing panels. The Clinical Genome Resource (ClinGen) works to determine the clinical importance of genes and variants to support precision medicine. As part of this work, ClinGen has developed a semi-quantitative framework to assess the strength of evidence for the role of a gene in a disease. Given the diversity in gene composition across LD panels offered by various laboratories and the evolving comprehension of genetic variants affecting secondary lysosomal functions, we developed a scoring system to define LD (Lysosomal Disease Scoring System - LDSS). This system sought to aid in the prioritization of genes for clinical validity curation and assess their suitability for LD-targeted sequencing panels. METHODS: Through literature review encompassing terms associated with both classically designated LD and LFRD, we identified 14 criteria grouped into "Overall Definition," "Phenotype," and "Pathophysiology." These criteria included concepts such as the "accumulation of undigested or partially digested macromolecules within the lysosome" and being "associated with a wide spectrum of clinical manifestations impacting multiple organs and systems." The criteria, along with their respective weighted values, underwent refinement through expert panel evaluation differentiating them between "major" and "minor" criteria. Subsequently, the LDSS underwent validation on 12 widely acknowledged LD and was later tested by applying these criteria to the Lysosomal Disease Network's (LDN) official Gene List. RESULTS: The final LDSS comprised 4 major criteria and 10 minor criteria, with a cutoff of 2 major or 1 major and 3 minor criteria established to define LD. Interestingly, when applied to both the LDN list and a comprehensive gene list encompassing genes included in clinical panels and published as LFRD genes, we identified four genes (GRN, SLC29A3, CLN7 and VPS33A) absent from the LDN list, that were deemed associated with LD. Conversely, a subset of non-classic genes included in the LDN list, such as MTOR, OCRL, and SLC9A6, received lower LDSS scores for their associated disease entities. While these genes may not be suitable for inclusion in clinical LD multi-gene panels, they could be considered for inclusion on other, non-LD gene panels. DISCUSSION: The LDSS offers a systematic approach to prioritize genes for clinical validity assessment. By identifying genes with high scores on the LDSS, this method enhanced the efficiency of gene curation by the ClinGen LD GCEP. CONCLUSION: The LDSS not only serves as a tool for gene prioritization prior to clinical validity curation, but also contributes to the ongoing discussion on the definition of LD. Moreover, the LDSS provides a flexible framework adaptable to future discoveries, ensuring its relevance in the ever-expanding landscape of LD research.
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Cystoid macular edema (CME) is considered a rare adverse effect of rituximab use, with only a limited number of cases published in the literature. Although its etiopathogenesis is still unknown, its mechanism seems to be related to a transient elevation of cytokines after rituximab infusion resulting in an increased permeability of retinal vessels. We report the first case of rituximab-induced CME in a patient with systemic lupus erythematosus (SLE), where rituximab was used to treat hematological complications. A month after the 2nd infusion, the patient developed blurred vision and decreased visual acuity in the right eye. An optic coherence tomography (OCT) was performed, being diagnosed with CME. Rituximab was then discontinued, exhibiting a complete resolution of the condition within 4 weeks. The aim of our work is to report the first case in a patient with SLE and also carry out a brief review of the subject comparing it to all previously published cases.
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Lupus Eritematoso Sistémico , Edema Macular , Rituximab , Humanos , Rituximab/efectos adversos , Rituximab/uso terapéutico , Rituximab/administración & dosificación , Edema Macular/inducido químicamente , Edema Macular/etiología , Edema Macular/tratamiento farmacológico , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Femenino , Tomografía de Coherencia Óptica , AdultoRESUMEN
BACKGROUND: Acute coronary syndrome (ACS), specifically ST-segment elevation myocardial infarction is a major cause of morbidity and mortality throughout Europe. Diagnosis in the acute setting is mainly based on clinical symptoms and physician's interpretation of an electrocardiogram (ECG), which may be subject to errors. ST-segment elevation is the leading criteria to activate urgent reperfusion therapy, but a clear ST-elevation pattern might not be present in patients with coronary occlusion and ST-segment elevation might be seen in patients with normal coronary arteries. METHODS: The ASSIST project is a retrospective observational study aiming to improve the ECG-assisted assessment of ACS patients in the acute setting by incorporating an artificial intelligence platform, Willem™ to analyze 12lead ECGs. Our aim is to improve diagnostic accuracy and reduce treatment delays. ECG and clinical data collected during this study will enable the optimization and validation of Willem™. A retrospective multicenter study will collect ECG, clinical, and coronary angiography data from 10,309 patients. The primary outcome is the performance of this tool in the correct identification of acute myocardial infarction with coronary artery occlusion. Model performance will be evaluated internally with patients recruited in this retrospective study while external validation will be performed in a second stage. CONCLUSION: ASSIST will provide key data to optimize Willem™ platform to detect myocardial infarction based on ECG-assessment alone. Our hypothesis is that such a diagnostic approach may reduce time delays, enhance diagnostic accuracy, and improve clinical outcomes.
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Inteligencia Artificial , Electrocardiografía , Humanos , Electrocardiografía/métodos , Estudios Retrospectivos , Infarto del Miocardio/diagnóstico , Femenino , Masculino , Reproducibilidad de los Resultados , Diagnóstico por Computador/métodos , Síndrome Coronario Agudo/diagnóstico , Infarto del Miocardio con Elevación del ST/diagnóstico , Proyectos de Investigación , Angiografía Coronaria , Persona de Mediana EdadRESUMEN
Background: The aging of the population highlights the need to establish empathetic connections with older adults. To achieve this, age simulation suits have been designed, allowing users to experience the physical limitations associated with aging. This study aimed to evaluate the experience of dental students with these devices, using psychometric tools to measure the impact on their understanding and empathy. Methods: A pre/post-test study was conducted with the participation of 63 dental students from Rey Juan Carlos University who were fitted with an age simulation suit and asked to perform different tasks. Psychometric tools were used to assess specific parameters. Empathy was measured using the Jefferson Empathy Scale, emotional intelligence was assessed with the Trait Meta-Mood Scale-24 (TMMS-24), and the emotional attention dimension was analyzed using the Positive and Negative Affect Schedule (PANAS). Results: The scores on the Jefferson Empathy Scale significantly improved from 88.44 ± 6.8 to 91.06 ± 10.11 after using the simulation suit (P < 0.026). Pearson's product moment correlation analysis showed no significant positive association or correlation between age and scores from the three questionnaires. In the rest, a positive and significant correlation was observed (P < 0.0001). Conclusions: Age simulation activities effectively enhance empathy among dental students. However, more studies are needed to foster positive attitudes toward aging and prevent negative stereotypes.
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Envejecimiento , Empatía , Estudiantes de Odontología , Humanos , Estudiantes de Odontología/psicología , Masculino , Femenino , Adulto , Envejecimiento/psicología , Envejecimiento/fisiología , Encuestas y Cuestionarios , Adulto Joven , Psicometría/métodos , Inteligencia EmocionalRESUMEN
Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted therapies early in the disease process in addition to providing prognostic information and appropriate support for families. In recent years, genomic sequencing technologies have become the first-line approach in the diagnosis of LDs. Understanding the clinical validity of the role of a gene in a disease is critical for the development of genomic technologies, such as which genes to include on next generation sequencing panels, and the interpretation of results from exome and genome sequencing. To this aim, the ClinGen Lysosomal Diseases Gene Curation Expert Panel utilized a semi-quantitative framework incorporating genetic and experimental evidence to assess the clinical validity of the 56 LD-associated genes on the Lysosomal Disease Network's list. Here, we describe the results, and the key themes and challenges encountered.
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BACKGROUND: To infer a reliable SARS-CoV-2 antibody protection level from a serological test, an appropriate quantitative threshold and solid equivalence across serological tests are needed. Additionally, tests should show a solid correlation with neutralising assays and with the protection observed in large population cohorts even against emerging variants. OBJECTIVES: We studied convalescent and vaccinated populations using 11 commercial antibody assays. Results were compared to evaluate discrepancies across tests. Neutralisation capacity was measured in a subset of the samples with a lentiviral-based assay. METHODS: Serum from convalescent (n = 121) and vaccinated individuals (n = 471, 260 with Comirnaty, 110 with Spikevax, and 96 with Vaxzevria) was assessed using 11 different assays, including two from Abbott, Euroimmun, Liaison, Roche, and Vircell, and one from Siemens. A spike protein-lentiviral vector with a fluorescent reporter was used for neutralisation assay of serum from convalescent (n = 26) and vaccinated (n = 39) individuals. RESULTS: Positivity ranged between 81.3 and 94.3% after infection and 99.4 and 99.7% after vaccination, depending on the assay. Both cohorts showed a high level of qualitative agreement across tests (Fleiss' kappa = 0.598 and 0.719 for convalescent and vaccinated respectively). Spikevax vaccine recipients showed the highest level of antibodies in all tests. Effectiveness of each test predicting SARS-CoV-2 neutralising capacity depended on assay type and target, with CLIA and anti-S being more effective than ELISA and anti-N assays, respectively. CONCLUSIONS: High-throughput immunoassays are good predictors of neutralising capacity. Updated targets and better standardisation would be required to find an effective correlate of protection, especially to account for antibodies against new variants.
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Objective: To evaluate the moral distress (MD)in health professionals of pediatric and adult units to show how the complexity of care in the pediatric field causes the professionals who carry out their activity in these units to present a higher level of moral distress and a worse climate ethical. Design: Observational study with health professionals who currently work in Spanish Hospitals. Methods: A 58-item questionnaire was electronically distributed which included sociodemographic and employment characteristics, the Spanish version of the Measure of Moral Unrest for Healthcare Professionals (MMD-HP-SPA) and the Hospital Ethical Climate Survey (HECS). Results: A total of 169 health professionals completed the questionnaire. The moral distress was significantly higher among nurses than among physicians and nursing assistant care technicians. Focusing on the type of unit, moral distress it was only significantly higher for those physicians treating adult patients compared to those treating pediatric patients. Regarding the total score of the HECS survey, the medical group shows higher scores compared to the nursing group. Conclusion: Statistically significant differences have been found only in the medical group that treats adult patients, presenting a higher level of moral unrests than the pediatrician group. The MMD-HP-SPA questionnaire is a valid and useful instrument to detect MD in our hospital units in order to be able to implement strategies/interventions that improve the ethical climate and other factors that can mitigate and prevent this MD.
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BACKGROUND: Cell phenotype switching is increasingly being recognized in atherosclerosis. However, our understanding of the exact stimuli for such cellular transformations and their significance for human atherosclerosis is still evolving. Intraplaque hemorrhage is thought to be a major contributor to plaque progression in part by stimulating the influx of CD163+ macrophages. Here, we explored the hypothesis that CD163+ macrophages cause plaque progression through the induction of proapoptotic endothelial-to-mesenchymal transition (EndMT) within the fibrous cap. METHODS: Human coronary artery sections from CVPath's autopsy registry were selected for pathological analysis. Athero-prone ApoE-/- and ApoE-/-/CD163-/- mice were used for in vivo studies. Human peripheral blood mononuclear cell-induced macrophages and human aortic endothelial cells were used for in vitro experiments. RESULTS: In 107 lesions with acute coronary plaque rupture, 55% had pathological evidence of intraplaque hemorrhage in nonculprit vessels/lesions. Thinner fibrous cap, greater CD163+ macrophage accumulation, and a larger number of CD31/FSP-1 (fibroblast specific protein-1) double-positive cells and TUNEL (terminal deoxynucleotidyl transferase-dUTP nick end labeling) positive cells in the fibrous cap were observed in nonculprit intraplaque hemorrhage lesions, as well as in culprit rupture sections versus nonculprit fibroatheroma sections. Human aortic endothelial cells cultured with supernatants from hemoglobin/haptoglobin-exposed macrophages showed that increased mesenchymal marker proteins (transgelin and FSP-1) while endothelial markers (VE-cadherin and CD31) were reduced, suggesting EndMT induction. Activation of NF-κB (nuclear factor kappa ß) signaling by proinflammatory cytokines released from CD163+ macrophages directly regulated the expression of Snail, a critical transcription factor during EndMT induction. Western blot analysis for cleaved caspase-3 and microarray analysis of human aortic endothelial cells indicated that apoptosis was stimulated during CD163+ macrophage-induced EndMT. Additionally, CD163 deletion in athero-prone mice suggested that CD163 is required for EndMT and plaque progression. Using single-cell RNA sequencing from human carotid endarterectomy lesions, a population of EndMT was detected, which demonstrated significant upregulation of apoptosis-related genes. CONCLUSIONS: CD163+ macrophages provoke EndMT, which may promote plaque progression through fibrous cap thinning.
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Antígenos CD , Antígenos de Diferenciación Mielomonocítica , Macrófagos , Placa Aterosclerótica , Receptores de Superficie Celular , Humanos , Antígenos de Diferenciación Mielomonocítica/metabolismo , Antígenos de Diferenciación Mielomonocítica/genética , Animales , Antígenos CD/metabolismo , Antígenos CD/genética , Macrófagos/metabolismo , Macrófagos/patología , Placa Aterosclerótica/patología , Placa Aterosclerótica/metabolismo , Receptores de Superficie Celular/metabolismo , Receptores de Superficie Celular/genética , Ratones , Células Cultivadas , Células Endoteliales/metabolismo , Células Endoteliales/patología , Masculino , Ratones Noqueados para ApoE , Ratones Endogámicos C57BL , Apoptosis , Femenino , Transición Epitelial-Mesenquimal , Vasos Coronarios/patología , Vasos Coronarios/metabolismoRESUMEN
BACKGROUND: Here we report the reliability and test/re-test validity of a Castillan version of the PCL-5 (PCL5-C) in mental health nurses. METHODS: A sample of 52 consecutive nurses was recruited from two psychiatric hospitals and four psychiatrists units of general hospitals in Madrid, Spain. RESULTS: We detected high internal consistency for the study questionnaire at the test assessment (n = 52) and at retest 0.929 and 0.935, respectively, by total Cronbach's α. All of the items at test and re-test correlated with the total score. CONCLUSIONS: Reproducibility analysis showed excellent test/re-test reliability for the total score and each item. Based on our findings, we conclude that the PCL5-C is a valid and reliable questionnaire when applied among Spanish mental health nurses population.
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Lista de Verificación , Enfermería Psiquiátrica , Psicometría , Trastornos por Estrés Postraumático , Humanos , España , Reproducibilidad de los Resultados , Femenino , Trastornos por Estrés Postraumático/diagnóstico , Trastornos por Estrés Postraumático/psicología , Encuestas y Cuestionarios , Adulto , Masculino , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Persona de Mediana EdadRESUMEN
BACKGROUND: This research evaluated whether the relationships between factors of resilience, self-esteem, depression, and anxiety in dental students with changes in teaching and learning methods. We also studied the psychological impact of face-to-face lectures during the COVID-19 pandemic. METHODS: This cross-sectional descriptive study used Google Forms to collect data with the Rosenberg Self-Esteem Scale (RSE), Connor-Davidson Risk Resilience Scale (CD-RISC), Beck Anxiety Inventory (BAI), and Beck Depression Inventory (BDI and BDI-II). An open-ended question was also asked about important learning difficulties. RESULTS: The analysis revealed very high levels of resilience (30.23 ± 5.84), self-esteem in the normal range (29.08 ± 4.03), minimal depression levels (12.32 ± 8.05), and low anxiety levels (17.20 ± 12.41). There were no significant differences between sociodemographic variables ranges in regard to all psychological questionnaires. No high levels of depression and anxiety were found. CONCLUSIONS: The levels were low compared to other studies in which online teaching was used, which is explained by the fact that the students retained adequate resilience and self-esteem thanks to being able to contact teachers and, above all, their own peers.
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Ansiedad , COVID-19 , Depresión , Resiliencia Psicológica , Autoimagen , Estudiantes de Odontología , Humanos , COVID-19/epidemiología , COVID-19/psicología , Estudios Transversales , Estudiantes de Odontología/psicología , Femenino , Masculino , Depresión/epidemiología , Depresión/psicología , Ansiedad/epidemiología , Adulto Joven , Adulto , Educación en Odontología , Pandemias , Educación a Distancia , SARS-CoV-2 , Encuestas y CuestionariosRESUMEN
INTRODUCTION AND OBJECTIVES: Exposure to secondhand smoke (SHS) causes cardiovascular disease, respiratory disease, and cancer. The aim of this study was to estimate the mortality attributed to SHS in people aged ≥ 35 years in Spain and its autonomous communities (AC) by sex from 2016 to 2021. METHODS: Estimates of SHS-attributable mortality were calculated by applying the prevalence-dependent method where SHS exposure was derived from the adjustment of small-area models and based on the calculation of population-attributed fractions. Sex, age group, AC, and cause of death (ischemic heart disease and lung cancer) were included. The estimates of attributed mortality are presented with their 95% confidence interval (95%CI). Crude and age-standardized rates were estimated for each sex and AC. RESULTS: From 2016 to 2021, SHS exposure caused 4,970 (95%CI, 4,787-5,387) deaths, representing 1.6% of total mortality for ischemic heart disease and lung cancer. The burden of attributed mortality differed widely among the AC, with Andalusia having the highest burden of attributed mortality (crude rate: 46.6 deaths per 100 000 population in men and 17.0/100 000 in women). In all the AC, the main cause of death in both sexes was ischemic heart disease. The highest burden of mortality was observed in nonsmokers. CONCLUSIONS: The burden of SHS-attributable mortality was high and varied geographically. The results of this study should be considered to advance tobacco control legislation in Spain.
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Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic phenotypes of creatine synthesis and transport. There are two enzyme deficiencies, guanidinoacetate methyltransferase (GAMT), encoded by GAMT and arginine-glycine amidinotransferase (AGAT), encoded by GATM, which are involved in the synthesis of creatine. After synthesis, creatine is taken up by a sodium-dependent membrane bound creatine transporter (CRTR), encoded by SLC6A8, into all organs. Creatine uptake is very important especially in high energy demanding organs such as the brain, and muscle. To classify the pathogenicity of variants in GAMT, GATM, and SLC6A8, we developed the CCDS Variant Curation Expert Panel (VCEP) in 2018, supported by The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource. We developed disease-specific variant classification guidelines for GAMT-, GATM-, and SLC6A8-related CCDS, adapted from the American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant interpretation guidelines. We applied specific variant classification guidelines to 30 pilot variants in each of the three genes that have variants associated with CCDS. Our CCDS VCEP was approved by the ClinGen Sequence Variant Interpretation Working Group (SVI WG) and Clinical Domain Oversight Committee in July 2022. We curated 181 variants including 72 variants in GAMT, 45 variants in GATM, and 64 variants in SLC6A8 and submitted these classifications to ClinVar, a public variant database supported by the National Center for Biotechnology Information. Missense variants were the most common variant type in all three genes. We submitted 32 new variants and reclassified 34 variants with conflicting interpretations. We report specific phenotype (PP4) using a points system based on the urine and plasma guanidinoacetate and creatine levels, brain magnetic resonance spectroscopy (MRS) creatine level, and enzyme activity or creatine uptake in fibroblasts ranging from PP4, PP4_Moderate and PP4_Strong. Our CCDS VCEP is one of the first panels applying disease specific variant classification algorithms for an X-linked disease. The availability of these guidelines and classifications can guide molecular genetics and genomic laboratories and health care providers to assess the molecular diagnosis of individuals with a CCDS phenotype.
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Amidinotransferasas , Amidinotransferasas/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos , Creatina , Creatina/deficiencia , Guanidinoacetato N-Metiltransferasa , Discapacidad Intelectual , Trastornos del Desarrollo del Lenguaje , Trastornos del Movimiento/congénito , Proteínas del Tejido Nervioso , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/deficiencia , Trastornos del Habla , Humanos , Guanidinoacetato N-Metiltransferasa/deficiencia , Guanidinoacetato N-Metiltransferasa/genética , Creatina/metabolismo , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/genética , Amidinotransferasas/genética , Amidinotransferasas/metabolismo , Discapacidad Intelectual Ligada al Cromosoma X/genética , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Mutación , Encefalopatías Metabólicas Innatas/genética , Encefalopatías Metabólicas Innatas/diagnóstico , Fenotipo , Curaduría de Datos , Discapacidades del DesarrolloRESUMEN
Para gestionar el capital venoso del paciente con seguridad y responsabilidad es necesario aumentar la calidad de los cuidados proporcionados, unificando y estandarizando los criterios de actuación, basándose siempre en la mejor evidencia científica. Las enfermeras de los Servicios de Urgencias deben aplicar la evidencia en el manejo del catéter venoso central de inserción periférica (PICC), conocer el protocolo aprobado por la Dirección Asistencial de su hospital y, sobre todo, evitar la variabilidad en la actuación, que podría aumentar los riesgos relacionados con la atención sanitaria, así como la desconfianza del paciente. Mantener actualizados los conocimientos y promover la adquisición de habilidades en la práctica clínica es de suma importancia para garantizar cuidados de calidad en el manejo de este tipo de catéteres, debiéndose comprobar periódicamente el grado de cumplimiento de la evidencia recogida en los protocolos existentes en el hospital. Las enfermeras tienen el reto de estar al día en el manejo de los accesos vasculares, y deben responder con seriedad y evidencia a los cuidados que necesitan los pacientes a los que se atienden. En este manuscrito se objetiva la necesidad de formar y capacitar de forma continua a los profesionales para el manejo adecuado del PICC. (AU)
In order to manage the venous resource of the patient safely and with responsibility, it is necessary to increase the quality of care provided, unifying and standardizing performance criteria, always based on the best scientific evidence. Emergency Unit nurses must apply evidence in their use of the peripherally inserted central venous catheter (PICC), they must know the protocol approved by the Patient Care Management in their hospital and, most of all, must avoid variability of action, which could increase the risks associated with healthcare as well as mistrust by patients. It is extremely important to keep an updated knowledge and to promote the acquisition of clinical practice skills, in order to guarantee quality care in the use of this type of catheters; the level of compliance of the evidence collected in the hospital protocols must be confirmed periodically. Nurses face the challenge of being updated in the management of vascular accesses, and must give response with seriousness and evidence to the care needed by their patients. This manuscript sets out objectively the need for continuous training and qualification for professionals regarding the adequate use of PICC. (AU)
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Humanos , Cateterismo Venoso Central/instrumentación , Cateterismo Venoso Central/métodos , Cateterismo Periférico/instrumentación , Cateterismo Periférico/métodos , Servicio de Urgencia en Hospital , Atención de Enfermería/métodos , Práctica Clínica Basada en la Evidencia , Enfermería Basada en la Evidencia , Atención al PacienteRESUMEN
Smoking and exposure to secondhand smoke pose a significant risk to the health of populations. Although this evidence is not new, the commitment of countries to implement laws aimed at controlling consumption and eliminating exposure to secondhand smoke is uneven. Thus, in North America or in Europe, locations like California or Ireland, are pioneers in establishing policies aimed at protecting the population against smoking and secondhand smoke. Identifying measures that have worked would help control this important Public Health problem in other countries that are further behind in tobacco control policies. In Spain, there has been almost 15 years of little political action in legislation oriented to control the tobacco epidemic. If we want to achieve the tobacco endgame, new legislative measures must be implemented. In this paper, we have elucidated tobacco control policies that could be implemented and show how different countries have done so.
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Política de Salud , Contaminación por Humo de Tabaco , Humanos , España/epidemiología , Contaminación por Humo de Tabaco/prevención & control , Contaminación por Humo de Tabaco/legislación & jurisprudencia , Contaminación por Humo de Tabaco/efectos adversos , Política de Salud/legislación & jurisprudencia , Fumar/legislación & jurisprudencia , Fumar/epidemiología , Fumar/efectos adversos , Prevención del Hábito de Fumar/legislación & jurisprudencia , Cese del Hábito de Fumar/legislación & jurisprudencia , Política para Fumadores/legislación & jurisprudencia , Control del TabacoRESUMEN
Hirschsprung's disease (HSCR) is a rare developmental disorder in which enteric ganglia are missing along a portion of the intestine. HSCR has a complex inheritance, with RET as the major disease-causing gene. However, the pathogenesis of HSCR is still not completely understood. Therefore, we applied a computational approach based on multi-omics network characterization and clustering analysis for HSCR-related gene/miRNA identification and biomarker discovery. Protein-protein interaction (PPI) and miRNA-target interaction (MTI) networks were analyzed by DPClusO and BiClusO, respectively, and finally, the biomarker potential of miRNAs was computationally screened by miRNA-BD. In this study, a total of 55 significant gene-disease modules were identified, allowing us to propose 178 new HSCR candidate genes and two biological pathways. Moreover, we identified 12 key miRNAs with biomarker potential among 137 predicted HSCR-associated miRNAs. Functional analysis of new candidates showed that enrichment terms related to gene ontology (GO) and pathways were associated with HSCR. In conclusion, this approach has allowed us to decipher new clues of the etiopathogenesis of HSCR, although molecular experiments are further needed for clinical validations.
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Enfermedad de Hirschsprung , MicroARNs , Humanos , Enfermedad de Hirschsprung/genética , Multiómica , MicroARNs/genética , Biología Computacional , BiomarcadoresRESUMEN
BACKGROUND: APOE is a known genetic contributor to cardiovascular disease, but the differential role APOE alleles play in subclinical atherosclerosis remains unclear. METHODS: The PESA (Progression of Early Subclinical Atherosclerosis) is an observational cohort study that recruited 4184 middle-aged asymptomatic individuals to be screened for cardiovascular risk and multiterritorial subclinical atherosclerosis. Participants were APOE-genotyped, and omics data were additionally evaluated. RESULTS: In the PESA study, the frequencies for APOE -ε2, -ε3, and -ε4 alleles were 0.060, 0.844, and 0.096, respectively. This study included a subcohort of 3887 participants (45.8±4.3 years of age; 62% males). As expected, APOE-ε4 carriers were at the highest risk for cardiovascular disease and had significantly greater odds of having subclinical atherosclerosis compared with ε3/ε3 carriers, which was mainly explained by their higher levels of low-density lipoprotein (LDL)-cholesterol. In turn, APOE-ε2 carriers were at the lowest risk for cardiovascular disease and had significantly lower odds of having subclinical atherosclerosis in several vascular territories (carotids: 0.62 [95% CI, 0.47-0.81]; P=0.00043; femorals: 0.60 [0.47-0.78]; P=9.96×10-5; coronaries: 0.53 [0.39-0.74]; P=0.00013; and increased PESA score: 0.58 [0.48-0.71]; P=3.16×10-8). This APOE-ε2 atheroprotective effect was mostly independent of the associated lower LDL-cholesterol levels and other cardiovascular risk factors. The protection conferred by the ε2 allele was greater with age (50-54 years: 0.49 [95% CI, 0.32-0.73]; P=0.00045), and normal (<150 mg/dL) levels of triglycerides (0.54 [0.44-0.66]; P=4.70×10-9 versus 0.90 [0.57-1.43]; P=0.67 if ≥150 mg/dL). Omics analysis revealed an enrichment of several canonical pathways associated with anti-inflammatory mechanisms together with the modulation of erythrocyte homeostasis, coagulation, and complement activation in ε2 carriers that might play a relevant role in the ε2's atheroprotective effect. CONCLUSIONS: This work sheds light on the role of APOE in cardiovascular disease development with important therapeutic and prevention implications on cardiovascular health, especially in early midlife. REGISTRATION: URL: https://www.clinicaltrials.gov: NCT01410318.
Asunto(s)
Aterosclerosis , Enfermedades Cardiovasculares , Masculino , Persona de Mediana Edad , Humanos , Femenino , Apolipoproteína E2/genética , Predisposición Genética a la Enfermedad , Apolipoproteínas E/genética , Enfermedades Cardiovasculares/genética , Genotipo , Aterosclerosis/epidemiología , Aterosclerosis/genética , LDL-Colesterol , AlelosRESUMEN
Lymphoid interstitial pneumonia (LIP) is a rare form of interstitial pulmonary disease, which has been described in association with a wide range of autoimmune disorders. Although the association of this entity with Sjogren's syndrome is well known, only a few cases are reported in relation to systemic lupus erythematosus (SLE). The aim of this paper is to review the cases reported in literature to date, as well as to describe the characteristics of these patients including the new case presented herein. We will be focusing on the case of a 36-year-old female patient diagnosed with SLE on hydroxychloroquine treatment who develops pleuritic chest pain and progressive dyspnea after 3 years of follow-up. The chest CT scan showed pleural thickening and both multiple and bilateral micronodules. A lung biopsy was also performed, revealing an infiltration of lymphocytes, plasma cells, and histiocytes in the alveolar septa suggestive of LIP. After conducting a review of the literature, we identified seven other cases describing SLE in association with LIP. The majority of them were young women, and LIP tends to appear early in the course of the disease, even as a form of initial presentation in some cases. Symptoms included cough, dyspnea, and pleuritic pain, with the exception of one case which was asymptomatic. It is noteworthy that half of the patients were positive for anti-SSA/anti-SSB autoantibodies, and some of them also met criteria for Sjogren's syndrome. Treatment with steroids and other immunosuppressive agents improved symptoms in all of them.